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Don’t fight Ataxia with Oculomotor Apraxia Type 2 alone.
Find your community on the free RareGuru App.Spinocerebellar ataxia with axonal neuropathy type 2 (SCAN2) is a rare condition that affects muscle control and coordination. Ataxia (difficulty coordinating movements) is generally the earliest sign of the condition and is often diagnosed between age seven and 25 years. Other signs and symptoms may include sensorimotor neuropathy, mild cognitive impairment and less commonly, movement disorders. Approximately half of affected people also experience, oculomotor apraxia which makes it difficult to move the eyes from side-to side in the desired direction. SCAN2 is caused by changes (mutations) in the SETX gene and is inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.
Source: GARD Last updated on 05-01-20
The signs and symptoms of spinocerebellar ataxia with axonal neuropathy type 2 (SCAN2) generally become apparent between age 7 and twenty five years. Ataxia is often the first symptom and is a major cause of disability in the early stages of the condition. Most people with SCAN2 also experience sensorimotor neuropathy which is associated with a decreased ability to move or feel (sensation) in certain parts of the body, especially the lower limbs. Other symptoms can include oculomotor apraxia, movement disorders, and mild cognitive impairment.
Last updated on 05-01-20
Spinocerebellar ataxia with axonal neuropathy type 2 (SCAN2) is caused by changes (mutations) in the SETX gene, which provides instructions for making a protein that is involved in DNA repair. People with a mutation in SETX make a reduced amount of this important protein. This leads to an accumulation of damaged DNA which can cause cells to become unstable and die. Certain cells in the brain, such as those involved in coordinating movements (the cerebellum), appear to be most affected by cell death because these cells do not copy themselves to replace cells that have been lost. Scientists suspect that the loss of brain cells in the cerebellum causes the many signs and symptoms associated with SCAN2.
Last updated on 05-01-20
A diagnosis of spinocerebellar ataxia with axonal neuropathy type 2 is often suspected based on the presence of characteristic signs and symptoms. Additional testing may then be ordered to confirm the diagnosis and to rule out other conditions that are associated with similar features. This testing may include:
Last updated on 05-01-20
Spinocerebellar ataxia with axonal neuropathy type 2 is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has a:
Last updated on 05-01-20
Although there is no cure for spinocerebellar ataxia with axonal neuropathy type 2 (SCAN2), treatments are available to help manage the signs and symptoms of the condition. For example, affected people may benefit from physical therapy and speech therapy. A wheelchair or other devices may be necessary to help maintain mobility. Children with SCAN2 may also need additional help in school since they may have difficulties with reading, writing and other activities. In some cases, a low-cholesterol diet may be recommended.
Last updated on 05-01-20
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